Prevalence of Undiagnosed Hemoglobinopathies Among Pregnant Women Attending Antenatal Care Clinic at Tertiary Care Center

Introduction: Hemoglobinopathies are the most common of all single gene inheritance (monogenic) autosomal recessive diseases and the most severe include sickle cell disease and alpha/beta thalassemia major. As carriers are typically asymptomatic and unaware of their carrier status, carrier couple often do not realize that with each pregnancy they face a 25% risk of child with hemoglobinopathy. Pregnant women those who are carriers of hemoglobinopathy present with anemia of varying severity. Aim And Objective: Ÿ The aim of the study was to explore better strategies for hemoglobinopathy prevention in the preconception and antenatal phase in general practice. Ÿ The objective of this study was to determine the prevalence of undiagnosed hemoglobinopathy carriers in random sample of pregnant women attending antenatal care clinic at tertiary care center. Material And Method: We carried out a retrospective study in which 436 blood samples of pregnant women were analysed between August 2023 to October 2023 (3 months) in the department of pathology at tertiary care center. Total 436 blood samples of pregnant women were analysed, genotype includes 21 case of beta thalassemia trait, 6 case of sickle cell trait, 1 case thalassemia intermedia, 1 case of delta-beta thalassemia, 1 case of HbD heterozygous and 1 case of HbE heterozygous. Each blood sample was run in BIO-RAD HEMOGLOBIN VARIANT- II HPLC machine. In present study, Prevalence of undiagnosed hemoglobinopathy carriers was Results: 7.11%. Out of which 4.81% were beta thalassemia trait, 1.38% sickle cell trait, 0.22% thalassmia intermedia, 0.22% delta- beta thalassemia, 0.22% HbD heterozygous and 0.22% HbE heterozygous. This study reveals the high prevalence of undiagnosed hemog Conclusion: lobinopathy carriers among pregnant women, indicating the need to immediately implement carrier screening and genetic counseling services across the country.